Haplotype structures of chromosome 21

a technology of chromosome 21 and haplotype, applied in the field of haplotype structure of chromosome 21, can solve the problems of cardiac arrhythmias that may degenerate into ventricular tachycardia, poor definition of the distance over which individual haplotype blocks extend, and complex local haplotype structure in the human genome, so as to determine the predisposition, susceptibility or resistance of the individual

Inactive Publication Date: 2006-10-19
GENETIC TECHNOLOGIES LIMTIED
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  • Description
  • Claims
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Problems solved by technology

However, the complexity of local haplotype structure in the human genome and the distance over which individual haplotype blocks extend is poorly defined, with some haplotype blocks extending for only a few kilobases and others extending for more than 100 kilobases (Patil, N. et al., Science, 294:1719 (2001)).
Malfunction of these channels can cause abnormalities in the repolarization of the heart resulting in less efficient pumping of oxygenated blood through the body.
Long QT Syndrome (LQTS), a familial and potentially fatal disorder of the electrical system of the heart, is also caused by malfunction of the cardiac potassium ion channels, which can lead to cardiac arrhythmia that may degenerate into ventricular tachycardia and even result in death.
Currently, there is no quick and reliable method of identifying individuals with malfunctions of these potassium ion channels or a predisposition to LQTS.

Method used

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  • Haplotype structures of chromosome 21
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  • Haplotype structures of chromosome 21

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Embodiment Construction

[0016] I. Glossary [0017] II. General [0018] III. Polymorphisms, Haplotype Blocks and Haplotype Patterns [0019] IV. Detection of Haplotype Structure of the Invention in Target DNA [0020] V. Methods of Use [0021] A. Identification of genetic loci associated with phenotypic traits [0022] B. Production and use of peptides [0023] C. Diagnostics [0024] D. Pharmacogenomics [0025] E. Therapeutics [0026] F. Other uses and aspects of the invention [0027] VI. Conclusion

I. Glossary

[0028] As used in the specification, “a” or “an” means one or more. As used in the claim(s), when used in conjunction with the word “comprising”, the words “a” or “an” mean one or more. As used herein, “another” means at least a second or more.

[0029]“Gene” is intended to mean the ORF (open reading frame) encoding an RNA or polypeptide, intronic regions, and the adjacent 5′ and 3′ non-coding nucleotide sequences, which may extend up to about 10 kb beyond the coding region, but possibly further in either direction....

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Abstract

The present invention includes the use of any of the polymorphisms, SNP haplotype blocks or SNP haplotype patterns. In one embodiment, susceptibility to a phenotype resulting from an allele or marker in linkage disequilibrium with such polymorphic forms is evaluated. Novel therapeutic and diagnostic compounds and methods are also disclosed.

Description

CROSS REFERENCE TO RELATED APPLICATIONS [0001] The present application is related to U.S. patent application U.S. Ser. No. unassigned, filed Aug. 22, 2002 (Attorney docket number 1030U-2); U.S. provisional patent application No. 60 / 323,059 filed Sep. 18, 2001 entitled “Human Genetic Polymorphisms”; U.S. provisional patent applications Nos. 60 / 280,530 filed Mar. 30, 2001, 60 / 313,264 filed Aug. 17, 2001, and 60 / 327,006 filed Oct. 5, 2001 entitled “Identifying Human SNP Haplotypes, Informative SNPs and Uses Thereof”; U.S. provisional patent application No. 60 / 332,550 filed Nov. 26, 2001 entitled “Methods for Genomic Analysis”; and the U.S. patent application Ser. No. 10 / 106,097 filed Mar. 26, 2002 entitled “Methods for Genomic Analysis”, which are incorporated by reference in their entirety for all purposes.BRIEF DESCRIPTION OF THE SEQUENCE LISTING [0002] The Sequence Listing, which is incorporated herein by reference in its entirety, provides two sequences, each of which is identified...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68C07H21/04
CPCC12Q1/6827C12Q2600/172C12Q2600/156C12Q1/6883
Inventor COX, DAVIDARNOLD, DEANA
Owner GENETIC TECHNOLOGIES LIMTIED
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